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Ontology Browser
Term:
autosomal recessive spinocerebellar ataxia 7 (DOID:0080059)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 3  
ataxia-oculomotor apraxia type 4  
autosomal recessive spinocerebellar ataxia 10  
autosomal recessive spinocerebellar ataxia 11  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 13  
autosomal recessive spinocerebellar ataxia 14  
autosomal recessive spinocerebellar ataxia 15  
autosomal recessive spinocerebellar ataxia 16  
autosomal recessive spinocerebellar ataxia 17  
autosomal recessive spinocerebellar ataxia 18  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
autosomal recessive spinocerebellar ataxia 20  
autosomal recessive spinocerebellar ataxia 21  
autosomal recessive spinocerebellar ataxia 22  
autosomal recessive spinocerebellar ataxia 23  
autosomal recessive spinocerebellar ataxia 24  
autosomal recessive spinocerebellar ataxia 25  
autosomal recessive spinocerebellar ataxia 26  
autosomal recessive spinocerebellar ataxia 27  
autosomal recessive spinocerebellar ataxia 28  
autosomal recessive spinocerebellar ataxia 29  
autosomal recessive spinocerebellar ataxia 3 
autosomal recessive spinocerebellar ataxia 30  
autosomal recessive spinocerebellar ataxia 31  
autosomal recessive spinocerebellar ataxia 32  
autosomal recessive spinocerebellar ataxia 33  
autosomal recessive spinocerebellar ataxia 4  
autosomal recessive spinocerebellar ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)
autosomal recessive spinocerebellar ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
Cayman type cerebellar ataxia  
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Friedreich ataxia +   
Marinesco-Sjogren syndrome  
mitochondrial DNA depletion syndrome 7  
primary coenzyme Q10 deficiency 4  

Synonyms
Exact Synonyms: SCAR7 ;   childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Broad Synonyms: TPP1-RELATED CONDITION
Primary IDs: MESH:C563753
Alternate IDs: OMIM:609270
Xrefs: GARD:12232
Definition Sources: https://ghr.nlm.nih.gov/gene/TPP1 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26224725 "DO" "DO"

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